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Entry Name Description Category Pathway Gene
H01894 Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis ... Inherited metabolic disorder, Mitochondrial disease (MMDS1) NFU1 [HSA:27247] [KO:K22074]
(MMDS2) BOLA3 [HSA:388962] [KO:K22075]
(MMDS3) IBA57 [HSA:200205] [KO:K22073]
(MMDS4) ISCA2 [HSA:122961] [KO:K22072]
(MMDS5) ISCA1 [HSA:81689] [KO:K22063]
(MMDS6) PMPCB [HSA:9512] [KO:K17732]
(MMDS7) GCSH [HSA:2653] [KO:K02437]
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